Catalogue of Somatic Mutations in Cancer (COSMIC)

A trusted resource to better understand somatic cancer mutations

The world's largest, expert-curated somatic mutation database

COSMIC

COSMIC, the Catalogue Of Somatic Mutations In Cancer, is the world’s largest and most comprehensive resource for exploring the impact of somatic mutations in human cancer. Containing nearly 24 million genomic variants across nearly 6,800 precise forms of human cancer, COSMIC provides variant scientists and bioinformaticians with an expert-curated database to:

  • Prioritize clinically relevant variants
  • Annotate variants with actionability
  • Rapidly assess somatic frequency
  • Precisely map genomic coordinates
  • Contextualize reports with COSMIC IDs

Learn how to predict and avoid mutational consequences of cancer therapies with COSMIC

In an on-demand with Dr. Kyle Nilson, learn how the Catalogue Of Somatic Mutations In Cancer (COSMIC) can be used to avoid mutational consequences in cancer drug development and to profile the mutational signatures of cancer therapies in clinical samples. The session is followed by a Q&A session with COSMIC curator Steven Jupe.

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Features

COSMIC Actionability

A resource that addresses the question “What treatment options are available or under investigation for cancer patients with somatic mutations?”

COSMIC Actionability delivers the latest data on the availability and development of drugs targeting specific somatic mutations in cancer.

Actionability covers clinically relevant mutations and alteration types in relevant genes for some of the most frequently sequenced cancer types such as lung, breast, melanoma, ovarian, and colon cancer.

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High Precision, Manual Curation

COSMIC deploys high precision manual curation methods by PhD-level experts with decades of experience.

The primary data in COSMIC are derived directly from the scientific literature by expert manual curators, who read and digest journal articles and extract detailed mutation data, along with additional information such as environmental factors or patient pre-disposition that may be accessible.

A second curation track brings into COSMIC a wealth of larger-scale but more narrowly-focussed data from systematic screens, via the major cancer data portals and from the supplementary tables and downloadable files associated with curated papers.

Exponential Increase in Mutations

Over the last five releases, COSMIC has increased the number of genomic mutations by over 17%.

Every four months, COSMIC content and features are updated to ensure you remain informed on the latest findings.

In the last five releases, over 3.4 million new mutations, over 93,000 new samples, and over 1,700 new articles were added.

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Genome-wide Annotation

COSMIC provides genome wide annotation with over 24 million genomic variants across more than 6,800 precise cancer types.

COSMIC encompasses every human gene, describing 5,406,768 coding mutations across 1,531,613 samples.

Key cancer genes are subject to deep, exhaustive curation by expert scientists. This is merged with genome-wide annotations from 45,178 whole genome and large-scale systematic screens publications, as well as open-access data from The Cancer Genome Atlas (TCGA) and the International Cancer Genome Consortium (ICGC).

VIEW DATABASE STATISTICS
Transparent Evidence Citations

In COSMIC, every data point is traceable to the source, data processing is documented, and the user has full control over all the data.

The primary data in COSMIC are derived directly from the scientific literature by expert manual curators, who read and digest journal articles and extract detailed mutation data, along with additional information such as environmental factors or patient pre-disposition that may be accessible.

A second curation track brings into COSMIC a wealth of larger-scale but more narrowly-focussed data from systematic screens, via the major cancer data portals and from the supplementary tables and downloadable files associated with curated papers.

Easy Search Functionality

With COSMIC, you can search for Disease, Gene, Variant, Sample, or Study with all data derived directly from a cited source.

COSMIC is designed to provide ease-of-use and maximum flexibility. Users have full control of how they search the data, visualize the data, and manipulate the data for specific panels and/or pipelines.

You can integrate the complete raw dataset into your lab’s proprietary database.

Applications

Use-Cases

How to search by gene, cancer type, and mutation Here, we show you how to search COSMIC for a gene, cancer type, and mutation using BRAF as an example.

COSMIC Main Page

To browse COSMIC you can simply navigate to the main page and search for a gene, cancer type, mutation, etc in the search box. To illustrate we will explore the results for a single gene. Type BRAF in the search interface and hit enter.

Search Results

If you select the BRAF result, COSMIC returns a detailed page that provides: gene summaries, links to other COSMIC resources (e.g., Census genes, Hallmark genes, etc), external links, drug resistance, tissue distribution, genome browser view, mutation distribution, variants, and references.

BRAF Overview

First, let’s look at the Overview section. Along the top of this section there are several useful icons. The ‘Census gene’ icon tells us that BRAF is a known cancer gene according to the Gene Census (see below). The next three icons tell us that it is also an ‘Expert curated gene’, that mouse insertional mutagenesis experiments support that BRAF is a cancer gene, and finally that BRAF is a ‘Cancer Hallmark’ gene. After these icons are many more details about BRAF including coordinates, synonyms, link to COSMIC-3D (see below), and more.

Gene View

Next, let’s examine the Gene view. The histogram of mutation (substitution) frequency shows a very dramatic “hotspot” of mutations at position 600 (e.g., p.V600E). Mouse over this part of the histogram to see details. This is a very well-known driver mutation in multiple types of cancer.

Tissue Distribution

Finally, navigate to the ‘Tissue distribution’ section. Sort the table by ‘Point mutations’ -> ‘% Mutated’. Notice that cancers of the thyroid and skin (e.g., melanoma) are by far the most consistently mutated at the BRAF gene locus (note NS means not specified). A subset of samples also display copy number variation (CNV) gains and up-regulated expression. In general certain predominanly mutated genes tend to be associated with cancers of certain origins. However, there are many exceptions to this statement and some genes (e.g., TP53) are widely mutated in many different cancer types.

COSMIC Main Page
Search Results
BRAF Overview
Gene View
Tissue Distribution

The world's largest, expert-curated somatic mutation database

+24M
Total Genomic Variants
+1.5M
Total Human Samples
+29,000
Expert-curated Papers
+50,000
Users Worldwide

Want to try COSMIC in your lab?

Request a demo with our experts to learn how you can try COSMIC for free in your lab. Not ready for a demo? Fill out the form and we will send you free resources to learn more.

Events & Webinars

How to use COSMIC to identify variants of interest for cancer research

The accurate identification and annotation of somatic variants rely on the accuracy and depth of reference databases. In this on-demand webinar, learn how to use COSMIC to annotate gene variants using the world’s most comprehensive resource of up-to-date scientific evidence to find biological connections in somatic variants with manually curated findings. 
Sample to Insight
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